Summary
Genomics has the potential to transform medical care across the world and in the NHS as well as dramatically improve patient outcomes in the UK and globally. The UK is considered to be a world leader in the development of Genomics. The 100,000 Genomes Project is a world-leading project that has placed the UK at the cutting edge of global advances in genetic medicine. We applaud the Government policies and on-the-ground initiatives that have led us to the internationally enviable position that UK genomics finds itself in today. Genomics has already led to advances in diagnosis and new treatments especially in certain cancers and rare diseases. The UK is uniquely positioned to benefit from greater understanding of genomics because of the unique strength of our national health service and thus the ability to maximise the collective benefits of very large quantities of reliable and detailed patient data. Nevertheless, much more needs to be done to achieve the full potential that genomics promises. The Government must continue, and increase, its investment in digital infrastructure and ensure that the NHS workforce is prepared for the new challenges associated with collecting, analysing, and acting upon genomic data. It is also essential that the public, who understandably have little knowledge of genomics and the treatments that arise from it, are informed of the opportunities it presents. Genomics is founded on the analysis of large volumes of health data. It is essential, therefore, that the public understands the value of their contribution to improving healthcare, and that the systems managing genomic data command the public’s trust.
The Committee welcomes the Life Sciences Sector Deal agreed by the Government which set out a range of measures to support genomics in the UK, including whole genome sequencing of the UK Biobank and an extension of the cancer branch of the 100,000 Genomes Project.
Genomic medicine involves mapping a person’s DNA and, through comparison with many other people’s DNA and medical records, searching for elements related to disease. It has great potential to improve patient care, particularly for diagnosing rare diseases and for more personalised targeting of medicines and treatments. In July 2017, the Chief Medical Officer published a report, ‘Generation Genome’, which discussed the scope for embedding it in the NHS. Our inquiry examined the opportunities and challenges involved in that endeavour, including the lessons learnt from the ‘100,000 Genomes Project’—the first large-scale whole genome sequencing exercise in the world.
The Project is an ambitious initiative that has put the UK at the forefront of genomic medicine worldwide. With the Project aiming to have completed sequencing of 100,000 genomes by the end of this year, it also represents a valuable source of evidence for determining the technology’s clinical efficacy and cost-effectiveness when applied at scale. The Government should conduct a detailed evaluation of the Project to inform the introduction of whole genome sequencing into routine NHS care planned as part of the forthcoming Genomic Medicine Service.
Research and evidence-gathering will also need to be continuing processes. NHS England should embed processes for evaluating the impact of whole genome sequencing as it configures the Genomics Medicine Service, in line with recommendations from the Chief Medical Officer’s report. Where more evidence is needed to demonstrate the benefit of whole genome sequencing over existing diagnostics for particular conditions, the existing diagnostics should be maintained alongside genome sequencing unless the genomic diagnostic has proved more accurate for that condition.
Significant digital infrastructure is needed to support routine genomic medicine, and it is welcome that some centres and hospitals already have solutions in place. However, the wider programme to improve NHS infrastructure is running to a later timeframe than the planned Genomic Medicine Service. The Government has expressed its commitment to funding the digital infrastructure required specifically for genomics but the relevant budgets now need to be confirmed. The digital infrastructure in place should be one consideration involved in decisions on providing whole genome sequencing in place of conventional alternative diagnostic tests, to avoid attempting to roll out a Genomic Medicine Service at a speed that cannot be delivered.
There appear also to be some gaps in the training needed for the Genomic Medicine Service. The Genomics Education Programme is playing an important role in raising awareness and expertise, however this was initially a 4 year programme. It is now to be continued, but with a substantially lower level of funding than previously. Genomics will need to be embedded in all relevant training courses and medical revalidation processes. Health Education England should complete detailed genomics workforce planning and modelling as soon as possible and funding for the necessary training should be provided.
Data sharing will be essential for genomic medicine and members of the public will need to be assured that data privacy rules are respected. Public support will be vital. A high proportion of patients involved in the 100,000 Genomes Project consented to sharing their genomic data, but its ‘broad consent’ model is unlikely to be feasible for routine genomic medicine in the NHS without extensive and continuing public engagement to increase understanding and acceptance. We recognise the Government’s determination to implement the General Data Protection Regulation but it should significantly increase its efforts to raise awareness. The Government should consult on, confirm, and publicise, the consent framework it intends to use for the Genomic Medicine Service as soon as possible.
It is important that patients do not refuse to give their consent to receive predictive genomic test results out of concern for how these might be used by insurance providers. As genomic sequencing becomes more common, there may be pressure on the current controls put on insurers’ ability to ask for test results by the Concordat and Moratorium agreed between the Government and the Association of British Insurers. The Government should seek to renew the Concordat as soon as possible, and in the longer-term set up systems to monitor any reluctance among patients to undertake genomic testing due to insurance concerns, assess the experiences of countries that ban insurers’ use of predictive genetic test results, and be ready to consider putting the Concordat on a statutory footing if the current voluntary system begins to limit the uptake of predictive testing.
Genomics England should seek to maximise the commercial value of its datasets and continue to provide industrial and academic access to these data to facilitate the growth of the UK genomics industry and the development of new treatments, while ensuring consent and data safety safeguards. Genomics England should explore technological and commercial mechanisms to enable better integration of the genomics data they hold with other NHS data and data owned by private companies. While patient benefit should be the focus of the Genomic Medicine Service, income generated from NHS data can be reinvested in the NHS and further benefit patients in the long term.
We also briefly examined genome editing—a rapidly developing technology that is already a powerful tool for research, and which has significant promise for therapeutic use. Different applications of the technology entail different ethical considerations, some of which are the subject of particular debate. The UK currently has a strong regulatory environment in this area, striking a balance between enabling important research and providing public confidence that ethical and other considerations are given appropriate oversight. The Government should require UK Research and Innovation to closely monitor the development of genome editing for potential obstacles to innovation in this area. If it becomes appropriate to review or amend the current regulations in light of technological developments, the process that accompanied legislative changes to allow mitochondrial donation should serve as a good model to follow.
Published: 20 April 2018